2023 World Conference on Lung Cancer (Posters)-P1.01. Frequency of Germline Mutations in Patients with Non-small Cell Lung Cancer (NSCLC) Harboring Actionable DRIVER Alterations (G-DRIVER)

P1.01. Frequency of Germline Mutations in Patients with Non-small Cell Lung Cancer (NSCLC) Harboring Actionable DRIVER Alterations (G-DRIVER) - PDF(Abstract)

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This presentation explores the frequency of germline mutations in patients with non-small cell lung cancer (NSCLC) who have actionable driver alterations. The study aimed to investigate whether this population of patients with NSCLC, who are typically younger and non-smokers, may also carry mutations in genes associated with cancer predisposition. The study included 141 patients diagnosed with NSCLC with somatic driver mutations, divided into two cohorts based on age at diagnosis. All patients underwent genetic testing using a custom panel and the findings were evaluated by a multidisciplinary tumor board. <br /><br />The results showed that 19.5% of patients harbored pathogenic or likely pathogenic germline mutations in 19 different cancer predisposition genes. However, the presence of these mutations was not significantly associated with any clinicopathological or somatic alteration. Only one patient met the criteria for Li-Fraumeni Syndrome, carrying a germline TP53 mutation. Five patients with actionable germline mutations were identified as candidates for referral to Genetic Counseling, and interestingly, four of these patients also had a somatic EGFR mutation. These findings suggest that germline testing in NSCLC patients with driver mutations may identify a higher percentage of germline mutations compared to the general NSCLC population. <br /><br />The presentation also includes a summary table of the epidemiological, clinicopathological, and molecular features of patients with and without pathogenic germline variants. The analysis found no significant differences between the two groups in terms of age, gender, smoking history, personal history of cancer, family history of cancer, or stage of disease. The frequencies of specific driver alterations, such as EGFR mutation and ALK fusion, were also similar between the groups. <br /><br />In conclusion, this study demonstrates the potential of germline testing to identify cancer predisposition gene mutations in NSCLC patients with actionable driver alterations. The findings suggest that a subset of NSCLC patients may benefit from genetic counseling and further evaluation for potential targeted therapies.

Asset Subtitle

Ernest Nadal

Meta Tag

Speaker Ernest Nadal

Topic Risk Factors, Risk Reduction & Tobacco Control

Keywords

germline mutations

non-small cell lung cancer

NSCLC

driver alterations

cancer predisposition

genetic testing

somatic driver mutations

Li-Fraumeni Syndrome

genetic counseling

targeted therapies